Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV-Reference-Cited by-同舟云学术

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

Published:2023-09-11 Issue:1 Volume:10 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Kodama Yoshihiko^ORCID,Meiri Satoru,Asada Tomoko,Matsuyama Misayo,Makino Shinya,Iwai Minayo,Yamaguchi Masatoshi^ORCID,Moritake Hiroshi^ORCID

Abstract

AbstractOsteogenesis imperfecta (OI) is a rare genetic disorder characterized by brittle bones. In this case report, we describe a patient who suffered from OI type XIV with a novel splice site variant in the TMEM38B gene. Further research is needed to better understand the relationship between the phenotype of OI type XIV and this variant.

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://www.nature.com/articles/s41439-023-00252-x.pdf

Reference13 articles.

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